Allele Registry

Canonical Allele Identifier: PA092049

Gene: GAA HGNC NCBI

ClinVar Allele:

187004

2410277

ClinVar RCV:

RCV000169391

RCV002223801

RCV003144097

RCV003778883

ClinVar Variation:

189007

2441622

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Trp481Arg	CA274247 NM_000152.5:c.1441T>C CA401366772 NM_000152.5:c.1441T>A